(Q36078461)

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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis

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Exome sequencing as a diagnostic tool in a case of undiagnosed juvenile-onset GM1-gangliosidosis (English)
Tyler Mark Pierson
Thomas Markello
Dimitre R Simeonov
Karin Fuentes Fajardo
Praveen F Cherukuri
Cornelius F Boerkoel
William A Gahl
Cynthia J Tifft

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